Childhood onset hereditary spastic paraplegia
Gene: KCNA2EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 10 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Four families described with same de novo mutation including spastic ataxia phenotype. Adult and Childhood onset.Created: 9 May 2019, 5:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Phenotypes
hereditary spastic paraplegia and ataxia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- hereditary spastic paraplegia and ataxia
- OMIM
- 176262
- Clinvar variants
- Variants in KCNA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: KCNA2 were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to KCNA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: KCNA2 were changed from to hereditary spastic paraplegia and ataxia
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: kcna2 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KCNA2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: KCNA2 was added gene: KCNA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: KCNA2 was set to